Evaluation of the CellaVision Advanced RBC Application for Detecting Red Blood Cell Morphological Abnormalities.

BACKGROUND: The Advanced RBC Application of the CellaVision DM9600 system (CellaVision AB, Lund, Sweden) automatically characterizes and classifies red blood cells (RBCs) into 21 morphological categories based on their size, color, shape, and inclusions. We evaluated the diagnostic performance of the CellaVision Advanced RBC Application with respect to the classification and grading of RBC morphological abnormalities in accordance with the 2015 International Council for Standardization in Haematology (ICSH) guidelines. METHODS: A total of 223 samples, including 123 with RBC morphological abnormalities and 100 from healthy controls, were included. Seven RBC morphological abnormalities and their grading obtained with CellaVision DM9600 pre- and post-classification were compared with the results obtained using manual microscopic examination. The grading cut-off percentages were determined in accordance with the 2015 ICSH guidelines. The sensitivity and specificity of the CellaVision DM9600 system were evaluated using the manual microscopic examination results as a true positive. RESULTS: In pre-classification, >90% sensitivity was observed for target cells, tear drop cells, and schistocytes, while >90% specificity was observed for acanthocytes, spherocytes, target cells, and tear drop cells. In post-classification, the detection sensitivity and specificity of most RBC morphological abnormalities increased, except for schistocytes (sensitivity) and acanthocytes (specificity). The grade agreement rates ranged from 35.9% (echinocytes) to 89.7% (spherocytes) in pre-classification and from 46.2% (echinocytes) to 90.1% (spherocytes) in post-classification. The agreement rate of samples with within-one grade difference exceeded 90% in most categories, except for schistocytes and echinocytes. CONCLUSIONS: The Advanced RBC Application of CellaVision DM9600 is a valuable screening tool for detecting RBC morphological abnormalities.

Anemia hemolítica con acantocitos / Spur cell anemia

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Neurodegeneration in the elderly - When the blood type matters: An overview of the McLeod syndrome with focus on hematological features.

Multisystem deterioration occurs mainly in older individuals and may be related to physiological tissue degeneration. However, genetic predisposition may be unmasked by inappropriate functional and structural system deficiencies. McLeod syndrome (MLS) is a rare, multisystem disease which is X-chromosomal inherited and belongs to the neuroacanthocytosis syndromes (NAS). The main clinical manifestations contain progressive neuro-psychiatric and cognitive deterioration, choreatic movement disorder, as well as myopathy, sensory motor axonal neuropathy and cardiomyopathy. In addition, MLS patients have red blood cell abnormalities including immune-hematological, morphological and functional impairments of red blood cells. In large deletions, contiguous gene syndrome may arise, including Duchenne muscular dystrophia, cellular immunodeficiency or retinitis pigmentosa. Hematological abnormalities such as blood group abnormalities in Kell- and XK blood group system, formation of anti-public red blood cell alloantibodies, acanthocytosis and elevated creatinine phosphokinase may precede clinical disease manifestation for decades and provide tools for early diagnosis. Patients with unexplained neuro-muscular deterioration and/or neuro-psychological pathologies accompanied with hematological abnormalities should be investigated for MLS.

Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis.

Chorea-acanthocytosis is an inevitably lethal genetic disease characterized by a progressive hyperkinetic movement disorder and cognitive and behavioral abnormalities as well as acanthocytosis. The disease is caused by loss-of-function mutations of the gene encoding vacuolar protein sorting-associated protein 13A (VPS13A) or chorein, a protein with unknown function expressed in various cell types. How chorein deficiency leads to the pathophysiology of chorea-acanthocytosis remains enigmatic. Here we show decreased phosphoinositide-3-kinase (PI3K)-p85-subunit phosphorylation, ras-related C3 botulinum toxin substrate 1 (Rac1) activity, and p21 protein-activated kinase 1 (PAK1) phosphorylation as well as depolymerized cortical actin in erythrocytes from patients with chorea-acanthocytosis and in K562-erythrocytic cells following chorein silencing. Pharmacological inhibition of PI3K, Rac1, or PAK1 similarly triggered actin depolymerization. Moreover, in K562 cells, both chorein silencing and PAK1 inhibition with IPA-3 decreased phosphorylation of Bad, a Bcl2-associated protein, promoting apoptosis by forming mitochondrial pores, followed by mitochondrial depolarization, DNA fragmentation, and phosphatidylserine exposure at the cell surface, all hallmarks of apoptosis. Our observations reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis.

[Hematuria and acanthocyturia in patients with diabetes].

It has been suggested that the finding of acanthocyturia in patients with hematuria points to the presence of glomerulonephritis. However, little attention has been paid to the finding of acanthocyturia in diabetic patients with hematuria. Here we studied 93 consecutive diabetic patients and explored the prevalence of microscopic hematuria and acanthocyturia in association with normoalbuminuria (NO; urinary albumin excretion (UAE) of < 30 mg/g x creatinine), microalbuminuria (MI; UAE of 30-299mg/g x creatinine), macroalbuminuriaMA; UAE of > or = 300mg/g x creatinine), or chronic renal failure (CRF; serum creatinine levels of > or = 1.1mg/dl for male and > or = 0.9mg/dl for female). We defined microscopic hematuria as > or = 5 erythrocytes per high-power field and acanthocyturia as > or = 5% acanthocytes (erythrocytes of doughnut-like appearance with vesicle-shaped protrusions) among 100 erythrocytes in the centrifuged urinary sediment. Microscopic hematuria was found in 12 (24%) out of 49 patients with NO, in 9 (43%) out of 21 patients with MI, in 6 (75%) out of 8 patients with MA, and in 7 (47%) out of 15 patients with CRF. Patients with microscopic hematuria showed a significant increase in urinary albumin excretion as compared to those without (836 +/- 265 vs. 135 +/- 56, p < 0.01). Of patients with microscopic hematuria, acanthocyturia was observed only in 2 (22%) out of 9 patients with MI and in 2 (33%) out of 6 patients with MA. Two of 4 patients with acanthocyturia had elevated serum levels of IgA and chronic tonsillitis, which indicated the occurrence of IgA nephropathy in these patients. Thus, microscopic hematuria was common and associated with elevated UAE, while acanthocyturia was rare and observed only in patients with elevated UAE. We propose that more attention should be paid to the finding of acanthocyturia in diabetic patients with hematuria and albuminuria.

Mechanism of red blood cell acanthocytosis and echinocytosis in vivo.

Patients with abetalipoproteinemia have an inborn absence of the major apoprotein of low density plasma lipoproteins, an abnormal serum and red cell lipid profile, and spiny erythrocytes, called acanthocytes. We now show that these deformed cells are reversibly converted to a normal shape, that of a biconcave disk, by incubation with 3 to 10 X 10(-5) M chlorpromazine. We suppose that chlorpromazine acts by expanding the cytoplasmic leaflet of the bilayer, thus promoting inward curvature. Ghosts isolated from the acanthocytes are themselves spiny but are also converted to normal, concave disks by chlorpromazine or merely by a brief incubation at 37 degrees C in low ionic strength buffer. We attribute the latter to a redistribution of lipids between the two leaflets of the membrane bilayer. Similar observations were made with red cells and ghosts from a patient with benign echinocytosis. These observations suggest that the morphological abnormality in acanthocytes and echinocytes can be ascribed to the same mechanism as crenation in vitro; that is, a bilayer couple effect in which an excess of surface area in the outer leaflet over the inner leaflet of the membrane bilayer drives outward curvature. It is striking that cells which were chronically abnormal in shape in vivo contain the information to become biconcave disks immediately upon simple chemical treatment in vitro.

Spur cell anemia.

The clinical and laboratory findings in eight patients with spur cell anemia are presented and compared with other cases gathered from the literature. Although there is no specific clinical or laboratory abnormality, the condition can be recognized by a constellation of findings. The majority of patients have a long history of ethanol abuse with clinical and laboratory manifestations of hepatocellular dysfunction. All patients have anemia, a reticulocyte count usually greater than 5%, and indirect hyperbilirubinemia. The sine qua non for the diagnosis of spur cell anemia is an increased percentage (usually greater than 20%) of acanthocytes on a peripheral smear. The prognosis of spur cell anemia is poor, the majority of patients dying within a year. From our study, spur cell anemia appears to be more prevalent than is generally reported.